Incidental Mutation 'R9069:Crybg1'
ID 689437
Institutional Source Beutler Lab
Gene Symbol Crybg1
Ensembl Gene ENSMUSG00000019866
Gene Name crystallin beta-gamma domain containing 1
Synonyms Aim1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9069 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 43826632-44024849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43874103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 1002 (F1002V)
Ref Sequence ENSEMBL: ENSMUSP00000143429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]
AlphaFold A0A0G2JG52
Predicted Effect probably benign
Transcript: ENSMUST00000020017
AA Change: F628V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: F628V

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 114 121 N/A INTRINSIC
low complexity region 176 192 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 507 518 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 837 857 N/A INTRINSIC
XTALbg 995 1078 8.57e-9 SMART
XTALbg 1094 1175 4.73e-20 SMART
XTALbg 1189 1282 1.23e-32 SMART
XTALbg 1290 1373 9.3e-28 SMART
XTALbg 1386 1465 1.66e-24 SMART
XTALbg 1473 1553 5.29e-32 SMART
RICIN 1556 1689 5.86e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200401
AA Change: F1002V

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: F1002V

DomainStartEndE-ValueType
low complexity region 377 390 N/A INTRINSIC
low complexity region 488 495 N/A INTRINSIC
low complexity region 550 566 N/A INTRINSIC
low complexity region 810 827 N/A INTRINSIC
low complexity region 881 892 N/A INTRINSIC
low complexity region 918 931 N/A INTRINSIC
low complexity region 1211 1231 N/A INTRINSIC
XTALbg 1369 1452 5.4e-11 SMART
XTALbg 1468 1549 2.9e-22 SMART
XTALbg 1563 1656 7.9e-35 SMART
XTALbg 1664 1747 6e-30 SMART
XTALbg 1760 1839 1.1e-26 SMART
XTALbg 1847 1927 3.3e-34 SMART
RICIN 1930 2063 3.3e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (78/78)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,818,523 (GRCm39) C103S probably damaging Het
Adamts20 T C 15: 94,236,349 (GRCm39) S841G probably benign Het
Add3 T A 19: 53,222,332 (GRCm39) V313E possibly damaging Het
Ahr G T 12: 35,562,771 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,356,874 (GRCm39) M48L probably benign Het
Apaf1 A C 10: 90,859,580 (GRCm39) probably null Het
Bank1 T C 3: 135,989,772 (GRCm39) H106R probably benign Het
Birc6 A G 17: 74,868,260 (GRCm39) probably benign Het
Castor1 A G 11: 4,170,141 (GRCm39) E73G probably benign Het
Ccdc170 C T 10: 4,511,016 (GRCm39) H692Y possibly damaging Het
Cd93 A G 2: 148,284,071 (GRCm39) I425T probably benign Het
Celsr1 A C 15: 85,914,772 (GRCm39) L1067R possibly damaging Het
Clca3a2 A T 3: 144,519,447 (GRCm39) probably benign Het
Col14a1 T C 15: 55,251,990 (GRCm39) S549P unknown Het
Col6a4 A G 9: 105,952,138 (GRCm39) S587P possibly damaging Het
Crebbp C A 16: 3,903,187 (GRCm39) M2017I probably benign Het
Ctif T C 18: 75,654,458 (GRCm39) E356G probably damaging Het
Dbx2 T C 15: 95,530,239 (GRCm39) K243E probably damaging Het
Dgkh C T 14: 78,853,957 (GRCm39) V394I probably damaging Het
Dnaja4 T A 9: 54,621,638 (GRCm39) M321K probably benign Het
Dock9 T C 14: 121,866,324 (GRCm39) N593S probably damaging Het
Dot1l T A 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Eea1 A T 10: 95,831,510 (GRCm39) L200F probably damaging Het
Elp2 T G 18: 24,765,833 (GRCm39) F658V probably benign Het
Fbxw15 G A 9: 109,394,468 (GRCm39) Q116* probably null Het
Fstl5 A T 3: 76,615,416 (GRCm39) N826Y probably damaging Het
Galp T C 7: 6,214,347 (GRCm39) S60P possibly damaging Het
Gm7298 G T 6: 121,761,393 (GRCm39) M1316I probably benign Het
Gsdmc T C 15: 63,649,902 (GRCm39) M330V probably benign Het
Hectd2 T C 19: 36,562,862 (GRCm39) F175L probably benign Het
Hmbs A G 9: 44,248,102 (GRCm39) I318T possibly damaging Het
Ifi205 T C 1: 173,855,841 (GRCm39) D63G probably benign Het
Il10ra T A 9: 45,167,396 (GRCm39) Q387L probably damaging Het
Kcnj14 C A 7: 45,469,388 (GRCm39) G39V probably benign Het
Kpna1 T C 16: 35,836,381 (GRCm39) probably benign Het
Lrp2 A T 2: 69,331,996 (GRCm39) D1586E probably damaging Het
Lrrc45 A G 11: 120,607,947 (GRCm39) I243V probably benign Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Mamdc4 G T 2: 25,453,371 (GRCm39) T1216N probably damaging Het
Map1a A C 2: 121,134,145 (GRCm39) K1654Q probably benign Het
Mta2 G A 19: 8,924,104 (GRCm39) V195M probably damaging Het
Nav2 G T 7: 49,208,561 (GRCm39) R1583L probably damaging Het
Or2y1g A T 11: 49,171,247 (GRCm39) T91S probably benign Het
Or4c112 A T 2: 88,854,308 (GRCm39) L13Q probably damaging Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
Osbpl1a T A 18: 13,002,074 (GRCm39) probably benign Het
Pcdh17 T C 14: 84,685,084 (GRCm39) V517A possibly damaging Het
Pcdhb14 T A 18: 37,583,157 (GRCm39) C754* probably null Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhm3 T C 1: 64,960,802 (GRCm39) N485D probably benign Het
Plekho1 A C 3: 95,902,995 (GRCm39) S14A unknown Het
Ppp2r3d A T 9: 101,090,006 (GRCm39) C106S probably benign Het
Ppp6c A C 2: 39,094,928 (GRCm39) L99R probably damaging Het
Pramel27 A G 4: 143,578,345 (GRCm39) S202G probably benign Het
Prkdc T A 16: 15,653,091 (GRCm39) Y3855* probably null Het
Ptpru A T 4: 131,503,565 (GRCm39) I1155N possibly damaging Het
Reln C T 5: 22,216,059 (GRCm39) G1042D probably damaging Het
Sall4 A G 2: 168,596,773 (GRCm39) V689A probably benign Het
Sec31b C T 19: 44,507,741 (GRCm39) G768S probably damaging Het
Serpinb10 T A 1: 107,474,549 (GRCm39) V237D probably benign Het
Serpinb9 T G 13: 33,199,579 (GRCm39) D291E probably benign Het
Slc12a7 T G 13: 73,954,089 (GRCm39) probably benign Het
Slfn8 A T 11: 82,907,902 (GRCm39) F214I probably damaging Het
Slu7 A T 11: 43,328,952 (GRCm39) D58V probably damaging Het
Smu1 T C 4: 40,745,558 (GRCm39) Y254C probably damaging Het
Snapc4 A T 2: 26,260,805 (GRCm39) Y479* probably null Het
Specc1l A G 10: 75,066,640 (GRCm39) N30D probably benign Het
Spopfm1 A C 3: 94,173,153 (GRCm39) S50R possibly damaging Het
Tbck T C 3: 132,428,130 (GRCm39) probably null Het
Tcf7l1 T C 6: 72,610,259 (GRCm39) Y246C probably damaging Het
Tmem43 C T 6: 91,463,897 (GRCm39) R391W possibly damaging Het
Trav7-1 T G 14: 52,892,566 (GRCm39) S40A possibly damaging Het
Trim45 T A 3: 100,832,440 (GRCm39) Y224* probably null Het
Trio A T 15: 27,852,097 (GRCm39) I798N possibly damaging Het
Trnau1ap A T 4: 132,056,662 (GRCm39) probably null Het
Vmn1r213 T C 13: 23,196,043 (GRCm39) S209P probably damaging Het
Ythdf1 G T 2: 180,552,857 (GRCm39) R453S probably damaging Het
Other mutations in Crybg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crybg1 APN 10 43,868,505 (GRCm39) missense probably damaging 1.00
IGL00502:Crybg1 APN 10 43,834,309 (GRCm39) missense probably damaging 1.00
IGL00848:Crybg1 APN 10 43,843,814 (GRCm39) splice site probably null
IGL01287:Crybg1 APN 10 43,868,490 (GRCm39) missense possibly damaging 0.53
IGL01310:Crybg1 APN 10 43,879,596 (GRCm39) missense probably damaging 0.99
IGL01310:Crybg1 APN 10 43,851,054 (GRCm39) missense possibly damaging 0.95
IGL02683:Crybg1 APN 10 43,865,212 (GRCm39) missense possibly damaging 0.64
IGL03095:Crybg1 APN 10 43,865,245 (GRCm39) missense probably damaging 1.00
R0062:Crybg1 UTSW 10 43,873,902 (GRCm39) missense probably damaging 0.98
R0142:Crybg1 UTSW 10 43,875,059 (GRCm39) missense possibly damaging 0.83
R0294:Crybg1 UTSW 10 43,862,372 (GRCm39) missense probably damaging 1.00
R0539:Crybg1 UTSW 10 43,874,894 (GRCm39) missense probably benign 0.03
R0781:Crybg1 UTSW 10 43,875,089 (GRCm39) missense possibly damaging 0.95
R1110:Crybg1 UTSW 10 43,875,089 (GRCm39) missense possibly damaging 0.95
R1189:Crybg1 UTSW 10 43,874,790 (GRCm39) missense probably damaging 1.00
R1428:Crybg1 UTSW 10 43,851,074 (GRCm39) missense probably benign 0.33
R1521:Crybg1 UTSW 10 43,874,412 (GRCm39) missense probably damaging 1.00
R1688:Crybg1 UTSW 10 43,849,794 (GRCm39) missense probably damaging 1.00
R1728:Crybg1 UTSW 10 43,880,015 (GRCm39) missense probably damaging 0.97
R1756:Crybg1 UTSW 10 43,862,275 (GRCm39) missense probably damaging 1.00
R1773:Crybg1 UTSW 10 43,868,544 (GRCm39) missense possibly damaging 0.91
R1784:Crybg1 UTSW 10 43,880,015 (GRCm39) missense probably damaging 0.97
R1850:Crybg1 UTSW 10 43,873,670 (GRCm39) missense probably damaging 1.00
R1911:Crybg1 UTSW 10 43,873,673 (GRCm39) missense possibly damaging 0.47
R1920:Crybg1 UTSW 10 43,873,544 (GRCm39) missense probably damaging 1.00
R1964:Crybg1 UTSW 10 43,834,326 (GRCm39) missense probably damaging 1.00
R2298:Crybg1 UTSW 10 43,875,218 (GRCm39) missense probably damaging 1.00
R3617:Crybg1 UTSW 10 43,832,782 (GRCm39) missense possibly damaging 0.82
R3913:Crybg1 UTSW 10 43,874,759 (GRCm39) missense possibly damaging 0.95
R4081:Crybg1 UTSW 10 43,851,035 (GRCm39) missense probably damaging 1.00
R4116:Crybg1 UTSW 10 43,875,158 (GRCm39) missense possibly damaging 0.91
R4409:Crybg1 UTSW 10 43,874,754 (GRCm39) missense possibly damaging 0.94
R4583:Crybg1 UTSW 10 43,873,616 (GRCm39) missense probably damaging 1.00
R4721:Crybg1 UTSW 10 43,873,883 (GRCm39) missense probably damaging 1.00
R4818:Crybg1 UTSW 10 43,874,583 (GRCm39) missense probably benign 0.00
R4859:Crybg1 UTSW 10 43,868,565 (GRCm39) missense probably damaging 1.00
R4933:Crybg1 UTSW 10 43,875,209 (GRCm39) missense probably damaging 1.00
R5028:Crybg1 UTSW 10 43,874,208 (GRCm39) missense possibly damaging 0.74
R5057:Crybg1 UTSW 10 43,865,104 (GRCm39) nonsense probably null
R5102:Crybg1 UTSW 10 43,873,832 (GRCm39) missense probably damaging 1.00
R5103:Crybg1 UTSW 10 43,873,944 (GRCm39) missense probably damaging 1.00
R5137:Crybg1 UTSW 10 43,834,332 (GRCm39) missense probably damaging 1.00
R5212:Crybg1 UTSW 10 43,843,739 (GRCm39) missense possibly damaging 0.95
R5307:Crybg1 UTSW 10 43,879,710 (GRCm39) missense probably benign 0.00
R5353:Crybg1 UTSW 10 43,849,661 (GRCm39) missense probably damaging 1.00
R5463:Crybg1 UTSW 10 43,879,689 (GRCm39) nonsense probably null
R5503:Crybg1 UTSW 10 43,874,762 (GRCm39) missense probably benign 0.00
R5583:Crybg1 UTSW 10 43,879,506 (GRCm39) missense probably benign 0.01
R5835:Crybg1 UTSW 10 43,851,129 (GRCm39) missense probably benign 0.28
R6021:Crybg1 UTSW 10 43,873,534 (GRCm39) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,832,756 (GRCm39) missense probably damaging 1.00
R6032:Crybg1 UTSW 10 43,832,756 (GRCm39) missense probably damaging 1.00
R6277:Crybg1 UTSW 10 43,873,255 (GRCm39) missense probably benign 0.03
R6338:Crybg1 UTSW 10 43,868,505 (GRCm39) missense probably damaging 1.00
R6348:Crybg1 UTSW 10 43,879,947 (GRCm39) missense probably damaging 1.00
R6514:Crybg1 UTSW 10 43,873,211 (GRCm39) missense probably damaging 1.00
R6785:Crybg1 UTSW 10 43,875,167 (GRCm39) missense probably benign 0.00
R6804:Crybg1 UTSW 10 43,842,337 (GRCm39) missense probably damaging 1.00
R6938:Crybg1 UTSW 10 43,873,379 (GRCm39) missense probably benign 0.01
R6983:Crybg1 UTSW 10 43,875,338 (GRCm39) missense probably damaging 1.00
R7002:Crybg1 UTSW 10 43,874,831 (GRCm39) missense probably damaging 1.00
R7153:Crybg1 UTSW 10 43,840,662 (GRCm39) missense possibly damaging 0.64
R7271:Crybg1 UTSW 10 43,873,619 (GRCm39) nonsense probably null
R7293:Crybg1 UTSW 10 43,879,428 (GRCm39) missense probably damaging 1.00
R7304:Crybg1 UTSW 10 43,873,254 (GRCm39) missense probably benign 0.05
R7313:Crybg1 UTSW 10 43,865,107 (GRCm39) missense probably damaging 0.98
R7373:Crybg1 UTSW 10 43,880,136 (GRCm39) missense probably benign 0.00
R7449:Crybg1 UTSW 10 43,880,515 (GRCm39) missense probably benign
R7530:Crybg1 UTSW 10 43,875,069 (GRCm39) missense possibly damaging 0.62
R7660:Crybg1 UTSW 10 43,874,831 (GRCm39) missense probably damaging 0.97
R7701:Crybg1 UTSW 10 43,865,139 (GRCm39) missense probably benign 0.06
R8181:Crybg1 UTSW 10 43,862,322 (GRCm39) missense probably damaging 0.98
R8237:Crybg1 UTSW 10 43,842,376 (GRCm39) nonsense probably null
R8359:Crybg1 UTSW 10 43,868,538 (GRCm39) missense probably benign 0.03
R8751:Crybg1 UTSW 10 43,880,838 (GRCm39) missense probably benign 0.04
R8809:Crybg1 UTSW 10 43,879,428 (GRCm39) missense probably damaging 1.00
R9017:Crybg1 UTSW 10 43,880,477 (GRCm39) missense probably benign 0.00
R9099:Crybg1 UTSW 10 43,874,844 (GRCm39) missense probably benign 0.01
R9118:Crybg1 UTSW 10 43,879,925 (GRCm39) missense possibly damaging 0.56
R9185:Crybg1 UTSW 10 43,880,091 (GRCm39) missense probably benign 0.04
R9486:Crybg1 UTSW 10 43,880,145 (GRCm39) start gained probably benign
R9561:Crybg1 UTSW 10 43,873,428 (GRCm39) missense probably benign 0.00
RF005:Crybg1 UTSW 10 43,880,741 (GRCm39) missense probably benign 0.03
RF024:Crybg1 UTSW 10 43,880,741 (GRCm39) missense probably benign 0.03
X0065:Crybg1 UTSW 10 43,868,522 (GRCm39) synonymous silent
Z1088:Crybg1 UTSW 10 43,873,307 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTGGGGCACACATACTGC -3'
(R):5'- TGTCACAGTAATGAGCCTGAAG -3'

Sequencing Primer
(F):5'- GGGCACACATACTGCACTGTC -3'
(R):5'- CAGTAATGAGCCTGAAGTGGTGTC -3'
Posted On 2021-11-19